Clinical impact and safety of brain biopsy in unexplained central nervous system disorders: a real-world cohort study.

in Annals of clinical and translational neurology by Robin W van Steenhoven, Saan Salih, Juna M de Vries, Ide Smets, Rob M Verdijk, Mayke Gardeniers, Jeroen Kerstens, Juliette Brenner, Yvette S Crijnen, Marjolein Geurts, Jacoline E C Bromberg, Corine H GeurtsvanKessel, Peter A E Sillevis Smitt, Rutger K Balvers, Maarten J Titulaer

TLDR

  • The study found that brain biopsies in patients with unexplained CNS disorders have a high diagnostic yield and therapeutic impact, with only 4% complication rate.
  • The most common diagnoses were brain tumors/lymphomas, inflammatory disorders, infections, autoimmune encephalitis, and primary angiitis of the CNS.
  • A multidisciplinary team approach is crucial in establishing optimal indications for brain biopsy and subsequent treatment decisions.

Abstract

A substantial part of central nervous system (CNS) disorders remains unexplained, despite various new and minimally invasive diagnostic techniques. Within this rapidly developing diagnostic field, the precise role of brain biopsy is unknown. We aimed to study the clinical impact and safety of brain biopsies in unexplained CNS disorders. In this retrospective cohort study, we included all adult patients who were referred for a diagnostic work-up to our academic center with neuro-inflammatory, neuro-oncological, and neuro-infectious expertise and underwent a brain biopsy between January 2010 and December 2023. Typical cases of CNS neoplasms and infections were not analyzed. Brain biopsies were evaluated with respect to diagnostic and therapeutic impact and complication risk. Brain biopsy was performed in 587 patients. Ninety-four patients with a CNS disorder of unknown cause, with 107 biopsies, were analyzed (44% female, median age 58 years). Postoperative diagnoses included brain tumors/lymphomas (37/94, 39%), inflammatory disorders (11/94, 12%), infections (8/94, 9%), autoimmune encephalitis (8/94, 9%), and primary angiitis of the CNS (4/94, 4%). Diagnostic yield of brain biopsy was 62%, increasing up to 72% after repeat biopsies, as 10 additional patients were diagnosed with a brain tumor. In 77% of patients, brain biopsy changed the treatment strategy. Symptomatic intracranial hemorrhage occurred in 4 of 107 brain biopsies (4%). In a selected population of patients with unexplained CNS disorders, clinical impact of brain biopsies is high, while being relatively safe. A multidisciplinary team approach is fundamental in establishing optimal indication for brain biopsy and subsequent treatment decisions.

Overview

  • The study aims to investigate the clinical impact and safety of brain biopsies in patients with unexplained central nervous system (CNS) disorders.
  • A retrospective cohort study was conducted on 94 patients with a CNS disorder of unknown cause, who underwent a brain biopsy between 2010 and 2023.
  • The primary objective of the study is to determine the diagnostic yield and therapeutic impact of brain biopsies in this patient population.

Comparative Analysis & Findings

  • The diagnostic yield of brain biopsy was 62%, increasing to 72% after repeat biopsies, with 10 additional patients diagnosed with a brain tumor.
  • The most common postoperative diagnoses were brain tumors/lymphomas (39%), inflammatory disorders (12%), infections (9%), autoimmune encephalitis (9%), and primary angiitis of the CNS (4%).
  • Brain biopsy changed the treatment strategy in 77% of patients, indicating a significant clinical impact.

Implications and Future Directions

  • The study highlights the importance of a multidisciplinary team approach in establishing optimal indications for brain biopsy and subsequent treatment decisions.
  • Future studies should investigate the optimal timing and frequency of brain biopsies to maximize diagnostic yield and minimize complications.
  • The results of this study may also inform the development of new diagnostic techniques and biomarkers to improve the diagnosis of unexplained CNS disorders.
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